Variant report

Variant	rs35926313
Chromosome Location	chr7:64254462-64254463
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr7:64254444-64255241	SK-N-SH_RA	brain:	n/a	chr7:64254791-64254800
2	POLR2A	chr7:64254458-64255275	GM12892	blood:	n/a	n/a
3	GABPA	chr7:64254329-64255296	SK-N-SH	brain:	n/a	n/a
4	PBX3	chr7:64254339-64255178	SK-N-SH	brain:	n/a	chr7:64254678-64254687
5	POLR2A	chr7:64254433-64255247	GM19099	blood:	n/a	n/a
6	NFYA	chr7:64254445-64255034	Hela-S3	cervix:	n/a	chr7:64254714-64254727 chr7:64254714-64254728 chr7:64254716-64254726
7	MYC	chr7:64254453-64255237	NB4	blood:	n/a	chr7:64254694-64254704 chr7:64254789-64254799
8	ZMIZ1	chr7:64254453-64255425	K562	blood:	n/a	n/a
9	TEAD4	chr7:64254441-64255355	K562	blood:	n/a	n/a
10	HCFC1	chr7:64254129-64255163	Hela-S3	cervix:	n/a	n/a
11	MXI1	chr7:64253622-64256454	SK-N-SH	brain:	n/a	n/a
12	GABPA	chr7:64254234-64255483	MCF-7	breast:	n/a	n/a
13	POLR2A	chr7:64254433-64255180	HUVEC	blood vessel:	n/a	n/a
14	PBX3	chr7:64254423-64255020	A549	lung:	n/a	chr7:64254678-64254687
15	IRF1	chr7:64254451-64255029	K562	blood:	n/a	chr7:64254830-64254847 chr7:64254835-64254847
16	POLR2A	chr7:64254442-64255125	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr7:64254394-64255177	PFSK-1	brain:	n/a	n/a
18	GABPA	chr7:64254380-64255341	A549	lung:	n/a	n/a
19	CREB1	chr7:64254399-64255297	K562	blood:	n/a	chr7:64254773-64254786
20	BACH1	chr7:64254455-64254491	K562	blood:	n/a	n/a
21	REST	chr7:64254409-64255386	H1-neurons	neurons:	n/a	chr7:64254814-64254827
22	NR2F2	chr7:64254432-64254994	K562	blood:	n/a	n/a
23	PML	chr7:64254321-64255044	K562	blood:	n/a	n/a
24	POLR2A	chr7:64254444-64255097	HCT-116	colon:	n/a	n/a
25	MAX	chr7:64254435-64255111	SK-N-SH	brain:	n/a	chr7:64254694-64254704 chr7:64254789-64254799
26	SP1	chr7:64254424-64255054	H1-hESC	embryonic stem cell:	n/a	chr7:64254977-64254991 chr7:64254695-64254707 chr7:64254696-64254706 chr7:64254695-64254707
27	POLR2A	chr7:64254453-64255096	K562	blood:	n/a	n/a
28	CREB1	chr7:64254460-64255272	HepG2	liver:	n/a	chr7:64254773-64254786
29	POLR2A	chr7:64254390-64255410	H1-neurons	neurons:	n/a	n/a
30	CREB1	chr7:64254420-64255138	GM12878	blood:	n/a	chr7:64254773-64254786
31	POLR2A	chr7:64254409-64255417	K562	blood:	n/a	n/a
32	POLR2A	chr7:64254438-64255282	MCF-7	breast:	n/a	n/a
33	MAX	chr7:64254411-64255259	A549	lung:	n/a	chr7:64254694-64254704 chr7:64254789-64254799
34	FOS	chr7:64254442-64254909	MCF10A-Er-Src	breast:	n/a	n/a
35	SP1	chr7:64254399-64255225	HCT-116	colon:	n/a	chr7:64254977-64254991 chr7:64254695-64254707 chr7:64254696-64254706 chr7:64254695-64254707
36	NFYB	chr7:64254419-64255121	Hela-S3	cervix:	n/a	chr7:64254714-64254727 chr7:64254714-64254728 chr7:64254716-64254726 chr7:64254711-64254726 chr7:64254740-64254755
37	NR2F2	chr7:64254325-64255183	K562	blood:	n/a	n/a
38	ATF2	chr7:64254451-64255086	GM12878	blood:	n/a	n/a
39	POLR2A	chr7:64254462-64255432	GM12878	blood:	n/a	n/a
40	CREB1	chr7:64254434-64255206	HepG2	liver:	n/a	chr7:64254773-64254786
41	TAF1	chr7:64254443-64254988	PFSK-1	brain:	n/a	n/a
42	GABPA	chr7:64254459-64255238	A549	lung:	n/a	n/a
43	POLR2A	chr7:64254435-64255269	GM12878	blood:	n/a	n/a
44	SP1	chr7:64254443-64255207	A549	lung:	n/a	chr7:64254977-64254991 chr7:64254695-64254707 chr7:64254696-64254706 chr7:64254695-64254707
45	POLR2A	chr7:64254431-64255218	NB4	blood:	n/a	n/a
46	CBX3	chr7:64254409-64255527	K562	blood:	n/a	n/a
47	SP1	chr7:64254419-64255094	A549	lung:	n/a	chr7:64254977-64254991 chr7:64254695-64254707 chr7:64254696-64254706 chr7:64254695-64254707
48	POLR2A	chr7:64254440-64255027	HepG2	liver:	n/a	n/a
49	ELF1	chr7:64254455-64255091	HepG2	liver:	n/a	n/a
50	POLR2A	chr7:64254443-64255128	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:64253690..64256534-chr7:64497237..64499995,2	K562	blood:
2	chr7:64254199..64254897-chr7:104654095..104654973,2	NB4	blood:

Variant related genes	Relation type
ZNF138	TF binding region
ENSG00000234585	Chromatin interaction
ENSG00000239985	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000239569	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1405004	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1405005	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1405007	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1525813	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1608898	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2863988	0.87[ASN][1000 genomes]
rs4718112	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62456789	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62456793	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954038	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6959035	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7811995	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv2764000	chr7:63766980-64275251	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
4	esv2755057	chr7:63819849-64345822	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
5	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv888271	chr7:63961212-64295884	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
8	nsv888273	chr7:63990100-64291622	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
9	nsv888274	chr7:63990100-64331123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
10	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv888279	chr7:64094285-64331123	Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
13	esv3394685	chr7:64150166-64268675	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
15	nsv1026390	chr7:64240323-64414364	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
16	nsv888281	chr7:64250409-64295884	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64253200-64254600	Enhancers	HSMM	muscle
2	chr7:64253600-64254600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:64253600-64254600	Flanking Active TSS	K562	blood
4	chr7:64253800-64254600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr7:64253800-64255600	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr7:64254000-64254600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:64254000-64254600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr7:64254000-64254600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr7:64254000-64254600	Enhancers	Fetal Thymus	thymus
10	chr7:64254000-64255200	Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr7:64254200-64254600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:64254200-64254600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr7:64254200-64254600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr7:64254200-64254600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr7:64254200-64254600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr7:64254200-64254600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:64254200-64254600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr7:64254200-64254600	Flanking Active TSS	Fetal Brain Female	brain
19	chr7:64254200-64254600	Enhancers	Fetal Stomach	stomach
20	chr7:64254200-64254600	Enhancers	Gastric	stomach
21	chr7:64254200-64254600	Enhancers	Left Ventricle	heart
22	chr7:64254200-64254600	Flanking Active TSS	Dnd41	blood
23	chr7:64254200-64254600	Enhancers	NHEK	skin
24	chr7:64254200-64255600	Active TSS	Brain Cingulate Gyrus	brain
25	chr7:64254200-64255800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:64254200-64255800	Active TSS	Fetal Muscle Trunk	muscle
27	chr7:64254200-64256200	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr7:64254400-64254600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr7:64254400-64254600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:64254400-64254600	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr7:64254400-64254600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr7:64254400-64254600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr7:64254400-64254600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:64254400-64254600	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr7:64254400-64254600	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr7:64254400-64254600	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr7:64254400-64254600	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr7:64254400-64254600	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr7:64254400-64254600	Enhancers	Stomach Mucosa	stomach
40	chr7:64254400-64254600	Flanking Active TSS	Thymus	Thymus
41	chr7:64254400-64254600	Enhancers	GM12878-XiMat	blood
42	chr7:64254400-64254600	Flanking Active TSS	HSMMtube	muscle
43	chr7:64254400-64254600	Enhancers	HUVEC	blood vessel
44	chr7:64254400-64254800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr7:64254400-64254800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:64254400-64254800	Flanking Active TSS	Liver	Liver
47	chr7:64254400-64255000	Active TSS	Primary B cells from cord blood	blood
48	chr7:64254400-64255200	Active TSS	Primary monocytes fromperipheralblood	blood
49	chr7:64254400-64255200	Active TSS	Monocytes-CD14+_RO01746	blood
50	chr7:64254400-64255400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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